A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000488



Internal ID18743019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230799658..231269735hg38UCSC Ensembl
Innerchr1:230935404..231405481hg19UCSC Ensembl
Innerchr1:229002027..229472104hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38470078
hg19470078
hg18470078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500543
Samples
Known GenesARV1, C1orf131, C1orf198, CAPN9, FAM89A, GNPAT, LOC149373, MIR1182, TRIM67, TTC13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000488
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer